Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome
Journal Title: The Journal of Pediatric Research - Year 2017, Vol 4, Issue 2
Abstract
Thrombocytopenia absent radius (TAR) syndrome is a rare genetic anomaly presenting with bilateral radial aplasia and thrombocytopenia. Pathophysiology is not fully understood. Patients may need to receive thrombocyte transfusions for better neurological outcome and frequent follow-up may prevent serious complications such as intracranial hemorrhage. Here we report a one-day-old late preterm neonate diagnosed with TAR syndrome by clinical and laboratory data, and confirmed by genetic studies.
Authors and Affiliations
Övgü Büke, Sultan Bent, Tuğçe Damla Türkpençe, Şahin Hamilçıkan, Emrah Can
Keywords
Related Articles
- EP ID EP243488
- DOI 10.4274/jpr.57070
- Views 76
- Downloads 0
Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis
Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coar...
Visceral Leishmaniasis in Children in Southern Turkey: Evaluation of Clinical and Laboratory Findings and Liposomal Amphotericin B Treatment
Aim: Visceral leishmaniasis (VL) is a systemic infection that spreads hematogenously and affects the reticuloendothelial system by the infection of macrophages. VL occurs commonly in children, and only rarely in adults....
Intrapulmonary Sequestration in a 2-month-old Baby Treated Successfully by a Combination of Embolization and Surgical Resection
Intralobar pulmonary sequestration is a rare congenital malformation, usually diagnosed later in childhood or adolescence. We report a case who presented with tachypnea and was diagnosed at 2 months of age. Pulmonary seq...
Evaluation of Dynamic Postural Balance in Pediatric Familial Mediterranean Fever Patients
Aim: Familial Mediterranean Fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has been prescribed to treat FMF since 1972. Balance is a complex function of the neuromuscular system. The aim of this stud...
Attitudes of Medical Malpractice in Pediatric Surgery
Aim: The aim of this study was to evaluate the proportion of pediatric surgeons who committed medical malpractice (MM) while on duty in hospitals, whether this proportion changed according to age and experience, and if t...